We finally have a genetic link between ovarian cancer and this common disorder

Scientists have discovered a genetic link and a potentially causal relationship between endometriosis and certain types of ovarian cancer.

The absolute risk of a patient with endometriosis developing cancer is still very low, but these overlapping genetic markers could help researchers better understand and treat both diseases in the future.

“We don’t want women with endometriosis to worry, but rather we want them to be aware and know that the purpose of this study was to increase our understanding of these two diseases by understanding the genetic link between them. “, explains molecular bioscientist Sally Mortlock, from the University of Queensland, Australia.

Endometriosis is a very common and notoriously underdiagnosed condition. It occurs when cells similar to the lining of the uterus grow elsewhere in the body, sometimes causing pain or infertility.

Similar to other painful female conditions, endometriosis, or “endo” for short, has historically been neglected by medicine, and thanks to this setback, today we still know very little about it, including how it is caused.

Recent research suggests that endo holds a strong genetic component, often clustering in families. Epidemiological studies have also shown that people with endo are more likely to develop ovarian cancers later in life.

To dig deeper into the relationship between these two conditions, researchers in Australia have collated data from several genome-wide association studies.

Ultimately, they found 19 genetic locations in female DNA that appear to predispose people to endo while also predisposing them to epithelial ovarian cancer (which develops in the lining outside the uterus). ‘ovary).

“Overall, studies have estimated that one in 76 women is at risk of developing ovarian cancer in her lifetime, and endometriosis slightly increases that number to 1 in 55,” Mortlock says.

We still don’t know how to predict which endo patients are more likely to develop ovarian cancers, but Mortlock’s recent research gives us some clues.

The study used genomic data from several large and recent meta-analyses on endometriosis and epithelial ovarian cancer. Unlike previous studies, however, the authors were able to causally link the genetic components of endometriosis to certain types of ovarian cancer.

In simple terms, this means that researchers have found that the genes responsible for endometriosis are responsible for the development of tissues that increase the risk of developing ovarian cancer, but not the other way around.

This directionality suggests that endometriosis and epithelial ovarian cancer (EOC) are biologically related, and that “the effect of a genetic variant on endometriosis is likely to cause its effect on EOC for variants highlighted in this study,” according to the authors.

The genetic regions shared by endometriosis and EOC could help experts determine which mechanisms underlie this causal relationship and which biological pathways might contribute to risk.

Such research could provide potential drug targets and treatment options for both diseases, halting their progression.

In the present study, for example, some shared genetic variants were found in regions known to harbor hormone-responsive genes.

This suggests that hormone regulation could help block the causal pathway between endometriosis and a type of COE known as clear cell ovarian cancer (CCOC), which is associated with abnormal tissue growth outside of the uterus.

The authors also note that cell adhesion pathways were “significantly enriched” for some genetic variations shared between endo and CCOC. This suggests that the ability of endometriotic lesions to adhere to tissues may be an important part of disease development for both diseases.

Endometrioid ovarian cancer (ENOC) was also associated with endometriosis and, to a lesser extent, high-grade serous ovarian cancer (HGSOC), which is one of the deadliest human cancers with few predictive biomarkers.

Some of the genetic markers for endo and EOC identified in the present study are also shared with other reproductive diseases, such as polycystic ovary syndrome and uterine fibroids.

The authors therefore suspect that “disruption of underlying pathways important for the development and regulation of the reproductive and endocrine systems may predispose women to various diseases”, depending on their genetic and environmental risk factors.

Endometriosis itself is do not but over the years researchers have compared the way endometrial lesions metastasize, spread, invade and damage tissue to that of cancer cells.

Some case studies have even shown that on very rare occasions, endometrial lesions can turn into malignant tissue.

There are still so many avenues to explore in understanding endometriosis, but genetic studies like these can help experts narrow down the many options available to them, pushing future research in the right direction.

The study was published in Medicine Reports Unit.

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